Aydın Banu, Botan Edin, Gülensoy Bülent, Akyol Seda
Department of Pediatrics, Neonatology Unit, Lokman Hekim University Faculty of Medicine, Ankara, Turkey.
Division of Pediatric Critical Care Medicine, Ankara University Faculty of Medicine, Ankara, Turkey.
Acute Crit Care. 2024 Nov;39(4):647-651. doi: 10.4266/acc.2021.01081. Epub 2022 Jul 15.
The etiopathogenesis of hydranencephaly remains unclear; however, exposure to toxic substances during pregnancy likely increases hydranencephaly risk. Head computed tomography (CT) was performed in a neonate 9 hours post-delivery because the anterior fontanelle was large and there were clinical signs of encephalopathy. Head CT revealed a lack of both cerebral hemispheres and significant cystic enlargement, while the cerebellar hemispheres and pons were found to have developed normally. History-taking revealed that the mother worked in the automotive industry, specifically in the car paint cleaning business and was exposed to toluene during the pregnancy. The patient was diagnosed with hydranencephaly, central diabetes insipidus and central hypothyroidism. Due to the increased head circumference and tense anterior fontanelle, a ventriculoperitoneal shunt was placed. Toluene exposure during pregnancy should be considered among the causes of hydranencephaly. Furthermore, central diabetes insipidus and central hypothyroidism may develop in such cases.
积水性无脑畸形的发病机制尚不清楚;然而,孕期接触有毒物质可能会增加积水性无脑畸形的风险。一名新生儿在出生后9小时进行了头部计算机断层扫描(CT),因为其前囟门较大且存在脑病的临床体征。头部CT显示双侧大脑半球缺失且有明显的囊性扩大,而小脑半球和脑桥发育正常。病史采集显示,母亲在汽车行业工作,具体从事汽车喷漆清洁业务,孕期接触过甲苯。该患者被诊断为积水性无脑畸形、中枢性尿崩症和中枢性甲状腺功能减退症。由于头围增大和前囟门紧张,放置了脑室腹腔分流管。孕期接触甲苯应被视为积水性无脑畸形的病因之一。此外,此类病例可能会出现中枢性尿崩症和中枢性甲状腺功能减退症。